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720612000: syndrome cardio-spondylo-carpo-facial (trouble)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
1013881000172117 syndrome d'anomalie de la valve mitrale, surdité, anomalie squelettique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3321537011 Cardiospondylocarpofacial syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3321538018 Cardiospondylocarpofacial syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3321539014 Forney syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3321540011 Forney Robinson Pascoe syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3321541010 Mitral regurgitation with deafness and skeletal anomalies syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
755771000241113 syndrome cardio-spondylo-carpo-facial (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
966441000172114 syndrome cardio-spondylo-carpo-facial fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3321542015 This syndrome has characteristics of mitral insufficiency, conductive deafness, short stature, and skeletal anomalies (bony fusion involving the cervical vertebrae, the ossicles and the carpal and tarsal bones). It has been described in three members of one family. The mode of inheritance is likely to be autosomal dominant with incomplete penetrance. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Cardiospondylocarpofacial syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Cardiospondylocarpofacial syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Cardiospondylocarpofacial syndrome (disorder) morphologie associée (attribut) Valvular insufficiency (morphologic abnormality) true Inferred relationship Some 1
Cardiospondylocarpofacial syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 2
Cardiospondylocarpofacial syndrome (disorder) localisation d'une constatation (attribut) valve mitrale (structure corporelle) true Inferred relationship Some 1
Cardiospondylocarpofacial syndrome (disorder) localisation d'une constatation (attribut) structure osseuse true Inferred relationship Some 2
Cardiospondylocarpofacial syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Cardiospondylocarpofacial syndrome (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Cardiospondylocarpofacial syndrome (disorder) interprète (attribut) Height / growth measure false Inferred relationship Some 5
Cardiospondylocarpofacial syndrome (disorder) a pour interprétation (attribut) altéré true Inferred relationship Some 6
Cardiospondylocarpofacial syndrome (disorder) interprète (attribut) Cardiac function (observable entity) true Inferred relationship Some 6
Cardiospondylocarpofacial syndrome (disorder) est un(e) (attribut) Congenital insufficiency of mitral valve true Inferred relationship Some
Cardiospondylocarpofacial syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Cardiospondylocarpofacial syndrome (disorder) interprète (attribut) Hearing, function (observable entity) true Inferred relationship Some 4
Cardiospondylocarpofacial syndrome (disorder) a pour interprétation (attribut) altéré true Inferred relationship Some 4
Cardiospondylocarpofacial syndrome (disorder) interprète (attribut) Height / growth measure true Inferred relationship Some 3
Cardiospondylocarpofacial syndrome (disorder) a pour interprétation (attribut) altéré true Inferred relationship Some 3
Cardiospondylocarpofacial syndrome (disorder) localisation d'une constatation (attribut) oreille true Inferred relationship Some 5
Cardiospondylocarpofacial syndrome (disorder) est un(e) (attribut) Congenital anomaly of ear with impairment of hearing true Inferred relationship Some
Cardiospondylocarpofacial syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 5
Cardiospondylocarpofacial syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 5
Cardiospondylocarpofacial syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 5
Cardiospondylocarpofacial syndrome (disorder) est un(e) (attribut) Congenital anomaly of skeletal bone true Inferred relationship Some
Cardiospondylocarpofacial syndrome (disorder) est un(e) (attribut) Autosomal dominant hereditary disorder true Inferred relationship Some
Cardiospondylocarpofacial syndrome (disorder) est un(e) (attribut) Conductive hearing loss (disorder) true Inferred relationship Some
Cardiospondylocarpofacial syndrome (disorder) est un(e) (attribut) régurgitation de la valve mitrale (trouble) false Inferred relationship Some
Cardiospondylocarpofacial syndrome (disorder) est un(e) (attribut) syndrome de malformations multisystémiques true Inferred relationship Some
Cardiospondylocarpofacial syndrome (disorder) est un(e) (attribut) Congenital hearing disorder false Inferred relationship Some
Cardiospondylocarpofacial syndrome (disorder) est un(e) (attribut) insuffisance staturale true Inferred relationship Some
Cardiospondylocarpofacial syndrome (disorder) est un(e) (attribut) Auditory system hereditary disorder true Inferred relationship Some
Cardiospondylocarpofacial syndrome (disorder) est un(e) (attribut) Cardiovascular system hereditary disorder true Inferred relationship Some
Cardiospondylocarpofacial syndrome (disorder) est un(e) (attribut) Connective tissue hereditary disorder false Inferred relationship Some
Cardiospondylocarpofacial syndrome (disorder) est un(e) (attribut) Hereditary disorder of musculoskeletal system true Inferred relationship Some
Cardiospondylocarpofacial syndrome (disorder) localisation d'une constatation (attribut) oreille false Inferred relationship Some 4
Cardiospondylocarpofacial syndrome (disorder) interprète (attribut) Hearing, function (observable entity) false Inferred relationship Some 3
Cardiospondylocarpofacial syndrome (disorder) interprète (attribut) entité observable fonctionnelle false Inferred relationship Some
Cardiospondylocarpofacial syndrome (disorder) morphologie associée (attribut) Valvular insufficiency (morphologic abnormality) false Inferred relationship Some 5
Cardiospondylocarpofacial syndrome (disorder) localisation d'une constatation (attribut) valve mitrale (structure corporelle) false Inferred relationship Some 5
Cardiospondylocarpofacial syndrome (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 6
Cardiospondylocarpofacial syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 6
Cardiospondylocarpofacial syndrome (disorder) localisation d'une constatation (attribut) structure osseuse false Inferred relationship Some 6

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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